This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: PLA2G6
PLA2G6 (phospholipase A2 group VI)
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000184381
EnsemblGeneIds (GRCh37): ENSG00000184381
OMIM: 603604, Gene2Phenotype
PLA2G6 is in 18 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Is also in the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 10 Jun 2016, 11:17 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Early Onset Complex Disease
- Infantile neuroaxonal dystrophy 1, 256600
- Neurodegeneration with brain iron accumulation 2B, 610217
- Parkinson disease 14, 612953
- OMIM
- 603604
- Clinvar variants
- Variants in PLA2G6
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Hereditary ataxia with onset in adulthood
- DDG2P
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Severe insulin resistance and lipodystrophy syndromes
- Likely inborn error of metabolism
- Intellectual disability
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G6 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Radboud University Medical Center, Nijmegen
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PLA2G6 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert